DISEASES

Disease-gene associations mined from literature

Literature associating AK7 and reticular dysgenesis

AK7 [ENSP00000267584]

Adenylate kinase 7; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. Involved in maintaining ciliary structure and function.

Synonyms:  AK7,  AK7p,  hAK7,  G3V365,  H0YIY5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM